A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21488



Internal ID15830561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11186111..11186600hg38UCSC Ensembl
Outerchr12:11185099..11187272hg38UCSC Ensembl
Innerchr12:11338717..11339206hg19UCSC Ensembl
Outerchr12:11337700..11339877hg19UCSC Ensembl
Innerchr12:11229984..11230473hg18UCSC Ensembl
Outerchr12:11228967..11231144hg18UCSC Ensembl
Innerchr12:11229984..11230473hg17UCSC Ensembl
Outerchr12:11228967..11231144hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382174
hg192178
hg182178
hg172178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8918
Supporting Variants
SamplesNA12155
Known GenesTAS2R42
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv21488
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer